Androgen Insensitivity Syndrome

Common Name(s)

Androgen Insensitivity Syndrome, Androgen Resistance Syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. There are three types of androgen insensitivity syndrome which vary in severity. There are different management options, so talk to your doctor about the best care plan if you or your child has been diagnosed with androgen insensitivity syndrome. For more information about the different types, please visit: mild androgen insensitivity syndrome; partial androgen insensitivity syndrome; or complete androgen insensitivity syndrome.

Androgen insensitivity syndrome is caused by mutations in the AR gene on the X chromosome. It is inherited (runs in families) as an X-linked recessive trait. Normally, we have two copies of every gene, one on a chromosome inherited from each of our birth parents. Recessive means that both copies of the gene must have the change which causes the condition. However, the sex chromosomes are different. A male has one X and one Y chromosome, whereas a female has two X chromosomes. So a male only has one copy of a gene on the X chromosome, and if this one copy has the mutation, he will have androgen insensitivity syndrome. Talk with a genetic counselor if you or a family member has been diagnosed with androgen insensitivity syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Androgen Insensitivity Syndrome" returned 73 free, full-text research articles on human participants. First 3 results:

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
 

Author(s): Sunita M C De Sousa, Karin S Kassahn, Liam C McIntyre, Chan-Eng Chong, Hamish S Scott, David J Torpy

Journal:

 

The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.

Last Updated: 8 Nov 2016

Go To URL
Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
 

Author(s): K S H de Silva, N D Sirisena, H K Wijenayaka, J G Cooray, R W Jayasekara, V H W Dissanayake

Journal: Ceylon Med J. 2015 Dec;60(4):139-42.

 

There are several conditions giving rise to 46, XY disorders of sex development (DSD) with different modes of inheritance. Therefore definitive diagnosis based on molecular genetic confirmation would be the ideal to counsel parents regarding the future implications of the condition ...

Last Updated: 18 Jan 2016

Go To URL
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.
 

Author(s): Y Li, S Qu, P Li

Journal: Eur Rev Med Pharmacol Sci. 2015 Nov;19(21):4146-52.

 

Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS.

Last Updated: 23 Nov 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Androgen Insensitivity Syndrome" returned 7 free, full-text review articles on human participants. First 3 results:

[Complete androgen insensitivity syndrome: report of two cases and review of literature].
 

Author(s): Boutaina Lachiri, Ihssane Hakimi, Adil Boudhas, Khalid Guelzim, Jaouad Kouach, Mohamed Oukabli, Driss Moussaoui Rahali, Mohamed Dehayni

Journal:

 

Last Updated: 24 Aug 2015

Go To URL
Androgen insensitivity syndrome.
 

Author(s): Ieuan A Hughes, John D Davies, Trevor I Bunch, Vickie Pasterski, Kiki Mastroyannopoulou, Jane MacDougall

Journal: Lancet. 2012 Oct;380(9851):1419-28.

 

Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the ...

Last Updated: 22 Oct 2012

Go To URL
Androgen insensitivity syndrome: clinical features and molecular defects.
 

Author(s): Angeliki Galani, Sophia Kitsiou-Tzeli, Christalena Sofokleous, Emmanuel Kanavakis, Ariadni Kalpini-Mavrou

Journal: Hormones (Athens). ;7(3):217-29.

 

The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and ...

Last Updated: 12 Aug 2008

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.